Mutagenetix > Incidental Mutation

Incidental Mutation 'R9242:Esrra'

701069

Institutional Source

Beutler Lab

Gene Symbol

Esrra

Ensembl Gene

ENSMUSG00000024955

Gene Name

estrogen related receptor, alpha

Synonyms

ERRalpha, Err1, Nr3b1, Estrra

MMRRC Submission

068988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6888345-6899182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6889863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 290 (V290A)

Ref Sequence

ENSEMBL: ENSMUSP00000025906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025904] [ENSMUST00000025906] [ENSMUST00000088257] [ENSMUST00000116551] [ENSMUST00000149261] [ENSMUST00000173091] [ENSMUST00000173635] [ENSMUST00000174786]

AlphaFold

O08580

Predicted Effect

probably benign
Transcript: ENSMUST00000025904

SMART Domains

Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953

Domain	Start	End	E-Value	Type
Pfam:Redoxin	53	206	1e-31	PFAM
Pfam:AhpC-TSA	54	189	8.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025906
AA Change: V290A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: V290A

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	6.74e-5	PROSPERO
low complexity region	52	67	N/A	INTRINSIC
ZnF_C4	76	147	2.16e-40	SMART
low complexity region	169	187	N/A	INTRINSIC
internal_repeat_1	202	218	6.74e-5	PROSPERO
HOLI	229	391	9.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088257

SMART Domains

Protein: ENSMUSP00000085591
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	112	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116551

SMART Domains

Protein: ENSMUSP00000112250
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	112	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149261

SMART Domains

Protein: ENSMUSP00000135084
Gene: ENSMUSG00000024953

Domain	Start	End	E-Value	Type
Pfam:Redoxin	56	210	1.1e-31	PFAM
Pfam:AhpC-TSA	57	192	6.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173091

SMART Domains

Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953

Domain	Start	End	E-Value	Type
Pfam:Redoxin	53	99	3.3e-11	PFAM
Pfam:AhpC-TSA	54	100	9.3e-8	PFAM
Pfam:Redoxin	97	163	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173635
AA Change: V147A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955
AA Change: V147A

Domain	Start	End	E-Value	Type
PDB:1LO1\|A	1	21	6e-7	PDB
low complexity region	26	44	N/A	INTRINSIC
Pfam:Hormone_recep	65	158	4.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174786

SMART Domains

Protein: ENSMUSP00000134000
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	101	5.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

MGI Phenotype

PHENOTYPE: Homozygous mice for one mutation were viable but showed reduced weight gain associated with decreased peripheral fat deposition. Mutant mice were resistant to high-fat diet induced obesity. Another targeted mutation resulted in no significant abnormalities in homozygotes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	C	A	5: 8,949,677 (GRCm39)	T79K	probably damaging	Het
Ackr3	G	T	1: 90,142,558 (GRCm39)	G339V	probably damaging	Het
Agpat4	G	T	17: 12,429,186 (GRCm39)	R146L	probably damaging	Het
Ampd1	C	T	3: 102,998,936 (GRCm39)	R364C	probably damaging	Het
Atrnl1	A	G	19: 57,645,660 (GRCm39)	T507A	probably benign	Het
Cand2	C	G	6: 115,768,923 (GRCm39)	R578G	probably benign	Het
Capg	C	T	6: 72,532,869 (GRCm39)	P111L	probably damaging	Het
Carm1	C	T	9: 21,494,350 (GRCm39)	T289I	probably damaging	Het
Ccr6	A	G	17: 8,474,965 (GRCm39)	I57V	probably benign	Het
Cdk5rap2	T	C	4: 70,255,583 (GRCm39)	I434V	possibly damaging	Het
Chrdl2	C	T	7: 99,655,743 (GRCm39)		probably benign	Het
Cntnap5a	A	G	1: 116,220,109 (GRCm39)	T640A	probably benign	Het
Ctsd	T	C	7: 141,937,280 (GRCm39)		probably null	Het
D17H6S53E	G	T	17: 35,346,536 (GRCm39)	R149L	possibly damaging	Het
Dync1i1	A	G	6: 5,769,706 (GRCm39)	T77A	probably benign	Het
Emc2	T	C	15: 43,358,639 (GRCm39)	M100T	probably benign	Het
Fbl	T	C	7: 27,876,620 (GRCm39)	I207T	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gcc1	T	A	6: 28,420,375 (GRCm39)	N314I	possibly damaging	Het
Gzmm	A	T	10: 79,530,354 (GRCm39)	D175V	probably damaging	Het
Heatr1	G	A	13: 12,448,806 (GRCm39)	M1840I	probably benign	Het
Helz	T	C	11: 107,523,153 (GRCm39)	L779P	probably damaging	Het
Impg1	T	A	9: 80,289,064 (GRCm39)	N331I	probably damaging	Het
Inmt	C	T	6: 55,150,270 (GRCm39)		probably null	Het
Inpp5a	C	T	7: 139,061,634 (GRCm39)	T102M	probably damaging	Het
Lamc3	A	G	2: 31,788,323 (GRCm39)	Y161C	probably benign	Het
Lpin2	A	G	17: 71,553,966 (GRCm39)	*932W	probably null	Het
Lrp3	C	T	7: 34,901,934 (GRCm39)	R649H	probably benign	Het
Madd	G	A	2: 90,973,949 (GRCm39)	T1464I	probably damaging	Het
Nceh1	C	A	3: 27,293,777 (GRCm39)	Y178*	probably null	Het
Or5ae2	A	T	7: 84,506,086 (GRCm39)	K172*	probably null	Het
Or5b96	T	A	19: 12,867,989 (GRCm39)		probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd4	A	T	17: 42,627,604 (GRCm39)	R22*	probably null	Het
Ptpru	C	T	4: 131,530,341 (GRCm39)	G560S	probably damaging	Het
Ralgapb	G	T	2: 158,277,386 (GRCm39)	R250L	probably benign	Het
Rcor1	T	A	12: 111,076,228 (GRCm39)	Y395*	probably null	Het
Slc35f6	G	T	5: 30,805,410 (GRCm39)		probably benign	Het
Slc40a1	A	G	1: 45,950,129 (GRCm39)	V441A	probably benign	Het
Slc6a13	T	A	6: 121,295,228 (GRCm39)	F77Y	probably damaging	Het
Slc6a15	T	A	10: 103,229,406 (GRCm39)	C148*	probably null	Het
Sox10	T	C	15: 79,040,640 (GRCm39)	Y300C	probably damaging	Het
Tomm70a	T	A	16: 56,958,383 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,537 (GRCm39)	V122A	probably benign	Het
Tpi1	T	C	6: 124,791,138 (GRCm39)	Q33R	probably benign	Het
Unk	T	C	11: 115,940,184 (GRCm39)	V179A	probably benign	Het
Ush2a	G	T	1: 188,365,787 (GRCm39)	G2214C	probably damaging	Het
Vmn1r159	T	A	7: 22,542,912 (GRCm39)	Y40F	probably benign	Het
Wbp2nl	T	C	15: 82,192,748 (GRCm39)	V144A	probably benign	Het
Wdpcp	A	G	11: 21,835,040 (GRCm39)	E681G	probably benign	Het

Other mutations in Esrra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Esrra	APN	19	6,890,100 (GRCm39)	missense	probably damaging	1.00
IGL02153:Esrra	APN	19	6,891,190 (GRCm39)	missense	probably benign	0.38
IGL02396:Esrra	APN	19	6,889,373 (GRCm39)	missense	probably benign
IGL02642:Esrra	APN	19	6,890,218 (GRCm39)	missense	possibly damaging	0.85
R1463:Esrra	UTSW	19	6,889,823 (GRCm39)	missense	probably benign
R1484:Esrra	UTSW	19	6,890,197 (GRCm39)	missense	probably damaging	1.00
R1546:Esrra	UTSW	19	6,897,665 (GRCm39)	missense	probably benign	0.07
R1848:Esrra	UTSW	19	6,889,378 (GRCm39)	missense	probably benign	0.05
R2397:Esrra	UTSW	19	6,897,544 (GRCm39)	missense	probably damaging	1.00
R4853:Esrra	UTSW	19	6,897,440 (GRCm39)	missense	probably damaging	1.00
R5580:Esrra	UTSW	19	6,897,755 (GRCm39)	start codon destroyed	probably null	0.01
R5587:Esrra	UTSW	19	6,897,575 (GRCm39)	missense	probably benign
R6270:Esrra	UTSW	19	6,891,488 (GRCm39)	splice site	probably null
R6612:Esrra	UTSW	19	6,889,220 (GRCm39)	missense	probably benign	0.01
R6807:Esrra	UTSW	19	6,889,142 (GRCm39)	missense	probably benign	0.14
R7288:Esrra	UTSW	19	6,890,139 (GRCm39)	nonsense	probably null
R7599:Esrra	UTSW	19	6,891,214 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACAGTTGGAGGACCTTATGGG -3'
(R):5'- GGTTGAGCATCCTTGAACAGG -3'

Sequencing Primer
(F):5'- TTGGAGGACCTTATGGGGAGAC -3'
(R):5'- TTGAGCATCCTTGAACAGGTAGGC -3'

Posted On

2022-03-25